Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry

Abstract

Facioscapulohumeral dystrophy (FSHD) is a rare inherited neuromuscular disease estimated to affect 1/15,000 people. Through basic research, remarkable progress has been made towards the development of targeted therapies. Patient identification, through registries or other means is essential for trial-readiness. The UK FSHD Patient Registry is a patient initiated registry that collects standardised and internationally agreed dataset of self-reported clinical details combined with professionally verified genetic information. It includes four additional questionnaires to capture patient reported outcomes related to pain, quality of life and scapular fixation. Between 2013 and 2015, 518 patients registered 243 males, 241 females with a mean age of 47.8 years. Most of the patients have FSHD type 1 (91.7 %), and weakness of the facial (59.2 %) was the most prevalent symptom at onset, followed by shoulder-girdle muscles (53.3 %) and distal (22.45 %) or proximal lower limb weakness (14.8 %). 85.57 % patients were ambulant or ambulant with assistance at the time of registration, 7.9 % report respiratory insufficiency. The registry has demonstrated utility with the recruitment of patients for a natural history study of infantile onset FSHD, and the longitudinal analysis of patient-related outcomes will provide much-needed baseline information to power future trials. The internationally agreed core dataset enables national registries to participate in a “Global FSHD registry”. We suggest that the registry’s ability to interoperate with other large datasets will be instrumental for sharing and exploiting data globally.Electronic supplementary materialThe online version of this article (doi:10.1007/s00415-016-8132-1) contains supplementary material, which is available to authorized users.

Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy

“…In this study, all the questionnaires were patient reported without input from clinicians. This gives information about how patients perceive pain and QoL.…”

“…A cutoff point for data analysis was established in February 2017. This patient driven registry is based on the recommendations reported at the 171st European Neuromuscular Centre workshop on the care and management of FSHD . In addition to these items, several patient reported outcome measures (PROM) on pain and QoL and were added after consultation with the patient community about their own research priorities.…”

Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy

“…We analyzed data obtained from the UK FSHD Patient Registry, a patient‐initiated registry started in 2013 that collects self‐reported clinical details combined with professionally verified genetic information . The registry has received full ethical (Newcastle and North Tyneside 113/NE/0048), management (Newcastle upon Tyne Hospitals Trust R&D 6573), and data protection (Caldicott) approvals.…”

“…Each registered patient provided consent for use of their data for research. To verity the previous observations that patients with the B1 phenotype have a less severe form of the disease than patients with the typical FSHD (A) phenotype, we determined whether clinical differences in disease severity could also be detected among patients in the UK FSHD Patient Registry by analyzing the self‐reported distribution of weakness and current motor function. We divided the patients into 2 groups according to phenotype: group 1, classic FSHD phenotype/category A of CCEF and group 2, facial sparing phenotypes/category B1 of CCEF.…”

Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy

“…Despite its typical onset with facial and shoulder weakness, FSHD shows striking clinical heterogeneity [3–5]. Early onset tends to be associated with shorter D4Z4 fragments, faster progression and more severe phenotype [3, 6, 7].…”